Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
LUZP2_chr11_24492053_25087638	25030893	A A	ATATATAT others(39): Show ATATATATAATATATATTGTATTATATATATATAATATATATTGTAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG03239.hp1 HG01943.hp1 HG03239.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0074 a0002c0002t0001g0092 a0002c0002t0001g0074 a0002c0002t0001g0092	2	116	0.0172	46	c.766 others(65): Show c.766-19137_766-19136insATATATATTGTATTATATATATATAA TATATATTGTATTATATATA	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
LY86_chr6_6583720_6659982	6585671	T T	TTATATAT others(39): Show TTATATATATATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	424	0.0024	46	c.-30 others(57): Show c.-3064_-3063insTATATATATATATATATATATATATATATATATA TATATATATATA	LY86	ENSG00000112799.9	transcript	ENST00000230568.5	protein_coding		3048		chr6	TogoVar
LYN_chr8_55874835_56019169	55942333	A A	ATATATAT others(39): Show ATATATATGTGTATATATATGTGTATATATATGTGTATATATATGTG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0002 a0001c0001t0021g0002	2	288	0.0069	46	c.132 others(61): Show c.132+349_132+350insGTGTATATATATGTGTATATATATGTGTAT ATATATGTGTATATAT	LYN	ENSG00000254087.8	transcript	ENST00000519728.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
LYPD5_chr19_43790927_43807447	43794410	C C	CATATATA others(39): Show CATATATATATATACATACATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03098.hp2 HG06807.hp2 HG02976.hp2 HG03098.hp2 HG06807.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0010 a0002c0001t0006g0069 a0002c0001t0006g0010 a0002c0001t0006g0069	3	428	0.0070	46	c.31 others(57): Show c.3180_*3181insATATATATATATATATATATATATATATGTATGT ATATATATATAT	LYPD5	ENSG00000159871.15	transcript	ENST00000377950.8	protein_coding		1516		chr19	TogoVar
LYPD6B_chr2_149033699_149220262	149172486	T T	TCAGGTCA others(39): Show TCAGGTCAGAGTTGATGCAGGATGAGATTATGCCTTGTTCAGTGGTA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0101 a0001c0001t0001g0102	2	264	0.0076	46	c.77+ others(63): Show c.77+11654_77+11699dupGGTCAGAGTTGATGCAGGATGAGATTAT GCCTTGTTCAGTGGTACA	LYPD6B	ENSG00000150556.17	transcript	ENST00000409642.8	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
LYPLA1_chr8_54041367_54106947	54084133	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	306	0.0033	46	c.101 others(65): Show c.101+16774_101+16775insATATATATATATATATATATTTTTTT TTTTTTTTTTTTTTTTTTTT	LYPLA1	ENSG00000120992.18	transcript	ENST00000316963.8	protein_coding	2/8			chr8	TogoVar
LYPLA1_chr8_54041367_54106947	54084133	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	306	0.0033	46	c.101 others(65): Show c.101+16774_101+16775insATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTTTT	LYPLA1	ENSG00000120992.18	transcript	ENST00000316963.8	protein_coding	2/8			chr8	TogoVar
LZTS1_chr8_20241165_20308963	20307803	G G	GATTCTCT others(39): Show GATTCTCTCTCTTTTCCTCCTCCTCCGTTGTTGTTGTTGAGAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0033 a0001c0002t0002g0033	1	406	0.0025	46	c.-41 others(57): Show c.-4199_-4198insATCTCTCTCAACAACAACAACGGAGGAGGAGGAA AAGAGAGAGAAT	LZTS1	ENSG00000061337.16	transcript	ENST00000381569.5	protein_coding		3841		chr8	TogoVar
MACF1_chr1_39199695_39492138	39296811	A A	AAAGGAAG others(39): Show AAAGGAAGGAAGGAAGGAAAAGAAAGAAAGAAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	246	0.0041	46	c.235 others(63): Show c.2356-791_2356-790insAAGAAAGAAAGAAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAA	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	20/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39307901	C C	CTTTCTTT others(39): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0187 a0002c0003t0001g0187	1	246	0.0041	46	c.279 others(65): Show c.2790-1666_2790-1665insCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTT	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	23/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACIR_chr5_103253763_103283660	103261650	C C	CTTTCTTT others(39): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0066 a0001c0002t0007g0066	1	360	0.0028	46	c.-11 others(65): Show c.-114+2797_-114+2798insTCTTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT	MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
MACIR_chr5_103253763_103283660	103261654	C C	CTTTCTTT others(39): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0056 a0001c0002t0003g0056	1	360	0.0028	46	c.-11 others(65): Show c.-114+2801_-114+2802insTCTTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT	MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
MACROD2_chr20_13990516_16058197	15869238	T T	TATATATA others(39): Show TATATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	24	0.0417	46	c.727 others(63): Show c.727+6413_727+6414insTATATATATATATATATATAGAGAGAGA GAGAGAGAGAGAGAGAGA	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MAD1L1_chr7_1810795_2237945	2058068	C C	CAGAGGAG others(39): Show CAGAGGAGAGGAGAGGAGAGGCGCGGGGCTGGAGAGGGAGTGTGGCC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03041.hp2 HG02615.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0140 a0001c0001t0001g0143	2	264	0.0076	46	c.121 others(67): Show c.1218+11125_1218+11126insGGCCACACTCCCTCTCCAGCCCCG CGCCTCTCCTCTCCTCTCCTCT	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	12/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2210405	T T	TTCTAGGA others(39): Show TTCTAGGAGCCATATTCAGGACCGCCAGCCCGCATTCCCGTGGACTC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02293.hp1 HG01081.hp2 HG02293.hp1	a0001 a0001	a0001c0004 a0001c0015 a0001c0004 a0001c0015	a0001c0004t0003 a0001c0015t0001 a0001c0004t0003 a0001c0015t0001	a0001c0004t0003g0119 a0001c0015t0001g0238 a0001c0004t0003g0119 a0001c0015t0001g0238	2	264	0.0076	46	c.986 others(63): Show c.986+2806_986+2807insGAGTCCACGGGAATGCGGGCTGGCGGTC CTGAATATGGCTCCTAGA	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2210405	T T	TTCTAGGA others(39): Show TTCTAGGAGCCATATTCGGGACCGCCAGCCCGCATTCCCGTGGACTC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02886.hp2 NA20300.hp1 HG02145.hp2 HG02886.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0157	3	264	0.0114	46	c.986 others(63): Show c.986+2806_986+2807insGAGTCCACGGGAATGCGGGCTGGCGGTC CCGAATATGGCTCCTAGA	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2210405	T T	TTCTAGGA others(39): Show TTCTAGGAGCCGTATTCGGGACCGCCAGCCCGCATTCCCGTGGACTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG01496.hp2 others(12): Show HG00140.hp1 HG00639.hp1 HG01496.hp2 HG01884.hp1 HG02080.hp1 HG02258.hp1 HG03516.hp1 HG04204.hp2 NA18940.hp2 NA18948.hp1 NA18948.hp2 NA18954.hp1 NA19009.hp1 NA19240.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0002c0002 a0002c0005	a0001c0001t0001 a0001c0001t0009 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0009 a0001c0003t0001 a0001c0004t0003 a0001c0007t0004 a0002c0002t0001 a0002c0005t0001	a0001c0001t0001g0108 a0001c0001t0001g0170 a0001c0001t0001g0214 others(12): Show a0001c0001t0001g0108 a0001c0001t0001g0170 a0001c0001t0001g0214 a0001c0001t0009g0247 a0001c0003t0001g0038 a0001c0003t0001g0039 a0001c0003t0001g0062 a0001c0004t0003g0180 a0001c0007t0004g0079 a0001c0007t0004g0080 a0002c0002t0001g0008 a0002c0002t0001g0052 a0002c0005t0001g0089 a0002c0005t0001g0213 a0002c0005t0001g0215	15	264	0.0568	46	c.986 others(63): Show c.986+2761_986+2806dupGAGTCCACGGGAATGCGGGCTGGCGGTC CCGAATACGGCTCCTAGA	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2210422	G G	GGGACCGC others(39): Show GGGACCGCCAGCCCGCATTCCCGTGGACTCTCTAGGAGCCGTATTCA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	264	0.0038	46	c.986 others(63): Show c.986+2789_986+2790insTGAATACGGCTCCTAGAGAGTCCACGGG AATGCGGGCTGGCGGTCC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2210435	C C	CGCATTCC others(39): Show CGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	264	0.0038	46	c.986 others(63): Show c.986+2776_986+2777insAGGCTGGCGGTCCCGAATACGGCTCCTA GAGAGTCCACGGGAATGC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2210573	C C	CGCATTCC others(39): Show CGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0084 a0001c0010t0001g0084	1	264	0.0038	46	c.986 others(63): Show c.986+2638_986+2639insAGGCTGGCGGTCCCGAATACGGCTCCTA GAGAGTCCACGGGAATGC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18			chr7	TogoVar
MAGI1_chr3_65348526_66043918	65395636	C C	CAAAAAAA others(39): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0083 a0002c0002t0001g0083	1	104	0.0096	46	c.220 others(65): Show c.2200-4279_2200-4278insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTT	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	13/22			chr3	TogoVar
MAGI1_chr3_65348526_66043918	65722727	T T	TGATAAAT others(39): Show TGATAAATAAATCATAAAATATGACATGAAAATAAATAAATATCATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	104	0.0096	46	c.314 others(67): Show c.314-100640_314-100639insTATGATATTTATTTATTTTCATGT CATATTTTATGATTTATTTATC	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
MAGI3_chr1_113385515_113690923	113416073	T T	TTAATCAC others(39): Show TTAATCACACATATCAATTATGTAATTAATCACACATATCAATTATG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0083 a0001c0001t0005g0083	1	236	0.0042	46	c.316 others(65): Show c.316+24728_316+24729insCACACATATCAATTATGTAATTAATC ACACATATCAATTATGTAAT	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAGT1_chrX_77820747_77900435	77834170	A A	ATATATAT others(39): Show ATATATATATGCATATATGTATATATATGCATATATATACATGTGTG	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA19080.hp2 NA18973.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0131 a0001c0001t0001g0132	2	260	0.0077	46	c.902 others(63): Show c.902-3321_902-3276dupCACACATGTATATATATGCATATATATA CATATATGCATATATATA	MAGT1	ENSG00000102158.22	transcript	ENST00000618282.5	protein_coding	8/9			chrX	TogoVar
MALRD1_chr10_19043801_19739478	19315023	A A	ATAAATAT others(39): Show ATAAATATAATTTATATAAATATGTAAATATAATTTATATAAATATG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01081.hp2 HG01109.hp2 others(13): Show HG00544.hp2 HG01081.hp2 HG01109.hp2 HG01192.hp2 HG02071.hp1 HG02074.hp2 HG02523.hp1 HG02602.hp2 HG02622.hp1 HG02896.hp1 HG03130.hp1 HG03669.hp2 HG03704.hp1 NA18960.hp2 NA18971.hp1 NA20805.hp1	a0007 a0010 a0019 others(8): Show a0007 a0010 a0019 a0026 a0043 a0062 a0065 a0075 a0083 a0096 a0097	a0007c0008 a0007c0015 a0010c0014 others(10): Show a0007c0008 a0007c0015 a0010c0014 a0019c0009 a0026c0062 a0026c0063 a0043c0091 a0062c0056 a0065c0109 a0075c0030 a0083c0054 a0096c0101 a0097c0102	a0007c0008t0001 a0007c0015t0001 a0010c0014t0001 others(10): Show a0007c0008t0001 a0007c0015t0001 a0010c0014t0001 a0019c0009t0002 a0026c0062t0001 a0026c0063t0001 a0043c0091t0002 a0062c0056t0002 a0065c0109t0002 a0075c0030t0001 a0083c0054t0001 a0096c0101t0001 a0097c0102t0001	a0007c0008t0001g0061 a0007c0015t0001g0109 a0007c0015t0001g0122 others(13): Show a0007c0008t0001g0061 a0007c0015t0001g0109 a0007c0015t0001g0122 a0010c0014t0001g0008 a0010c0014t0001g0135 a0019c0009t0002g0070 a0019c0009t0002g0091 a0026c0062t0001g0111 a0026c0063t0001g0041 a0043c0091t0002g0064 a0062c0056t0002g0147 a0065c0109t0002g0077 a0075c0030t0001g0125 a0083c0054t0001g0036 a0096c0101t0001g0113 a0097c0102t0001g0098	16	152	0.1053	46	c.342 others(65): Show c.3420-8910_3420-8865dupTAAATATGTAAATATAATTTATATAA ATATGTAAATATAATTTATA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19315085	G G	GAAATATG others(39): Show GAAATATGTAAATATAATTTATAGAAATATGTAAATATAATTTATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0031 a0007c0008t0001g0031	1	152	0.0066	46	c.342 others(65): Show c.3420-8819_3420-8818insTAAATATGTAAATATAATTTATAGAA ATATGTAAATATAATTTATA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19315154	G G	GAAATATG others(39): Show GAAATATGTAAATATAATTTATAGAAATATGTAAATATAATTTATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0073 a0073	a0073c0031 a0073c0031	a0073c0031t0001 a0073c0031t0001	a0073c0031t0001g0136 a0073c0031t0001g0136	1	152	0.0066	46	c.342 others(65): Show c.3420-8773_3420-8772insGAAATATGTAAATATAATTTATATAA ATATGTAAATATAATTTATA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATAGA others(39): Show TATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	340	0.0029	46	c.191 others(65): Show c.1911+2785_1911+2786insTATAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(39): Show TATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0084 a0001c0001t0004g0084	1	340	0.0029	46	c.191 others(65): Show c.1911+2785_1911+2786insTATATATAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(39): Show TATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	340	0.0029	46	c.191 others(65): Show c.1911+2785_1911+2786insTATATATATAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(39): Show TATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	340	0.0029	46	c.191 others(65): Show c.1911+2785_1911+2786insTATATATATATAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(39): Show TATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02622.hp2 HG04228.hp1 HG02451.hp1 HG02622.hp2 HG04228.hp1	a0001 a0003 a0015 a0001 a0003 a0015	a0001c0001 a0003c0003 a0015c0021 a0001c0001 a0003c0003 a0015c0021	a0001c0001t0001 a0003c0003t0001 a0015c0021t0001 a0001c0001t0001 a0003c0003t0001 a0015c0021t0001	a0001c0001t0001g0242 a0003c0003t0001g0026 a0015c0021t0001g0078 a0001c0001t0001g0242 a0003c0003t0001g0026 a0015c0021t0001g0078	3	340	0.0088	46	c.191 others(65): Show c.1911+2785_1911+2786insTATATATATATATAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(39): Show TATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA19080.hp2 HG00609.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0244 a0001c0001t0001g0226 a0001c0001t0001g0244	2	340	0.0059	46	c.191 others(65): Show c.1911+2785_1911+2786insTATATATATATATATAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(39): Show TATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA18944.hp2 HG02622.hp1 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0235 a0001c0001t0001g0038 a0001c0001t0001g0235	2	340	0.0059	46	c.191 others(65): Show c.1911+2785_1911+2786insTATATATATATATATATAGAGAGAGA GAGAGAGAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(39): Show TATATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02976.hp2 HG00323.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0213 a0001c0001t0001g0064 a0001c0001t0001g0213	2	340	0.0059	46	c.191 others(65): Show c.1911+2785_1911+2786insTATATATATATATATATATAGAGAGA GAGAGAGAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(39): Show TATATATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0008	a0001c0006t0008g0109 a0001c0006t0008g0109	1	340	0.0029	46	c.191 others(65): Show c.1911+2785_1911+2786insTATATATATATATATATATATAGAGA GAGAGAGAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAML3_chr4_139711753_140159184	140074177	A A	AAGAGAGA others(39): Show AAGAGAGAGAGAGAGAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG02258.hp2 others(5): Show HG00140.hp1 HG00639.hp1 HG02258.hp2 HG02896.hp2 HG02897.hp2 HG03239.hp2 HG03492.hp1 HG06807.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0004c0006 a0005c0007 a0006c0008	a0001c0001t0007 a0001c0002t0011 a0002c0003t0002 others(3): Show a0001c0001t0007 a0001c0002t0011 a0002c0003t0002 a0004c0006t0008 a0005c0007t0034 a0006c0008t0029	a0001c0001t0007g0091 a0001c0002t0011g0036 a0001c0002t0011g0064 others(5): Show a0001c0001t0007g0091 a0001c0002t0011g0036 a0001c0002t0011g0064 a0002c0003t0002g0107 a0004c0006t0008g0124 a0004c0006t0008g0127 a0005c0007t0034g0084 a0006c0008t0029g0094	8	152	0.0526	46	c.468 others(65): Show c.468+78682_468+78683insCTTTCTTTCTTTCTTTCTTTCTCTTT CTTTCTCTCTCTCTCTCTCT	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	140074199	G G	GAGAAAGA others(39): Show GAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAGAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0027 a0003c0005t0027	a0003c0005t0027g0004 a0003c0005t0027g0004	1	152	0.0066	46	c.468 others(65): Show c.468+78660_468+78661insTTCTCTTTCTTTCTCTCTCTCTCTCT TTCTTTCTTTCTTTCTTTCT	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAN1A2_chr1_117362449_117533872	117458485	A A	ATATATAT others(39): Show ATATATATATCTATATATATAGATATATATATATAGATATATATATC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0022 a0001c0001t0016g0022	1	370	0.0027	46	c.951 others(63): Show c.951-1995_951-1994insCTATATATATAGATATATATATATAGAT ATATATATCTATATATAT	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1C1_chr1_25611791_25789450	25644518	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0222 a0001c0002t0001g0222	1	250	0.0040	46	c.540 others(65): Show c.540+26182_540+26183insATATATATATATATATATATATATAT ATATATATTTTTTTTTTTTT	MAN1C1	ENSG00000117643.16	transcript	ENST00000374332.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAOB_chrX_43761610_43887450	43857134	G G	GATATATA others(39): Show GATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	234	0.0043	46	c.47- others(63): Show c.47-13371_47-13370insATATATATATATATATATATATATATAT ATATATATATATATATAT	MAOB	ENSG00000069535.14	transcript	ENST00000378069.5	protein_coding	1/14			chrX	TogoVar
MAP2K1_chr15_66381912_66496544	66420715	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA20129.hp2 NA18995.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0025 a0001c0001t0004g0041 a0001c0001t0004g0025 a0001c0001t0004g0041	2	372	0.0054	46	c.81- others(63): Show c.81-14305_81-14304insATATATATATATATATATATATATATAT ATATATATATGTATATAT	MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K1_chr15_66381912_66496544	66420721	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATGTATATATG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	372	0.0027	46	c.81- others(63): Show c.81-14305_81-14304insATATATATATATATATATATATATATAT ATATATATGTATATATGT	MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K1_chr15_66381912_66496544	66469693	G G	GACACACA others(39): Show GACACACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA18747.hp2 NA18968.hp1 others(1): Show HG02818.hp2 NA18747.hp2 NA18968.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0217 a0001c0001t0001g0224 others(1): Show a0001c0001t0001g0135 a0001c0001t0001g0217 a0001c0001t0001g0224 a0001c0001t0001g0235	4	372	0.0108	46	c.569 others(65): Show c.569-12031_569-12030insCACACACACACACACACACACACACA CACACACACACACACACACA	MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K1_chr15_66381912_66496544	66469723	C C	CACACACA others(39): Show CACACACACACACACACACACACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA18962.hp2 NA18979.hp2 others(2): Show HG03942.hp2 NA18962.hp2 NA18979.hp2 NA19009.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0083 a0001c0001t0002g0085 others(2): Show a0001c0001t0002g0069 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0095 a0001c0001t0002g0151	5	372	0.0134	46	c.569 others(65): Show c.569-12031_569-12030insCACACACACACACACACACACACACA CACACACACACACACACATA	MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K5_chr15_67537703_67812114	67575918	T T	TTCTTTCT others(39): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02809.hp2 HG03139.hp1 HG01884.hp1 HG02809.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0137 a0001c0001t0002g0147 a0001c0002t0002g0143 a0001c0001t0002g0137 a0001c0001t0002g0147 a0001c0002t0002g0143	3	278	0.0108	46	c.253 others(63): Show c.253-4835_253-4834insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCT	MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP3K5_chr6_136552046_136797477	136737041	A A	ATATATAT others(39): Show ATATATATATATATATGTGTGTGTATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03209.hp1 HG02965.hp1 HG03209.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0001 a0001c0006t0001 a0001c0004t0001 a0001c0006t0001	a0001c0004t0001g0003 a0001c0006t0001g0083 a0001c0004t0001g0003 a0001c0006t0001g0083	2	162	0.0124	46	c.449 others(65): Show c.449-16453_449-16452insCACACATATATATATATATATATACA CACACATATATATATATATA	MAP3K5	ENSG00000197442.11	transcript	ENST00000359015.5	protein_coding	1/29			chr6	TogoVar
MAP4K4_chr2_101692707_101899690	101797889	G G	GTTTTTTT others(39): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0102 a0001c0001t0003g0102	1	310	0.0032	46	c.180 others(63): Show c.180+7134_180+7135insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	3/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP6_chr11_75581918_75674038	75663394	A A	ATTTTCTG others(39): Show ATTTTCTGAAAAAAATTCAACTAAATGAAATTGACTCTATCAATATG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	390	0.0026	46	c.905 others(63): Show c.905+4025_905+4070dupCATATTGATAGAGTCAATTTCATTTAGT TGAATTTTTTTCAGAAAA	MAP6	ENSG00000171533.12	transcript	ENST00000304771.8	protein_coding	1/3			chr11	TogoVar
MAPK10_chr4_86005405_86365053	86138984	A A	AGAGTCAG others(39): Show AGAGTCAGAAGCTTATGTTGTTTATGCGGGGAAACGCCATATCGGGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00621.hp2 others(42): Show HG00140.hp2 HG00323.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01109.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01346.hp1 HG01928.hp1 HG01928.hp2 HG01978.hp2 HG02109.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG04199.hp1 HG04199.hp2 NA18939.hp1 NA18949.hp1 NA18962.hp1 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18994.hp2 NA19000.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19066.hp1 NA19070.hp1 NA19084.hp2 NA19090.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(20): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0024 a0001c0001t0026 a0001c0001t0029 a0001c0001t0035 a0001c0001t0036 a0001c0001t0048 a0001c0001t0052 a0001c0001t0053 a0001c0001t0055 a0001c0001t0056 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0077 a0001c0003t0051 a0001c0003t0057	a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0025 others(42): Show a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0159 a0001c0001t0001g0169 a0001c0001t0004g0166 a0001c0001t0007g0138 a0001c0001t0013g0094 a0001c0001t0013g0095 a0001c0001t0015g0048 a0001c0001t0015g0146 a0001c0001t0015g0149 a0001c0001t0016g0042 a0001c0001t0016g0117 a0001c0001t0016g0139 a0001c0001t0017g0018 a0001c0001t0017g0125 a0001c0001t0024g0037 a0001c0001t0024g0060 a0001c0001t0026g0040 a0001c0001t0026g0099 a0001c0001t0029g0107 a0001c0001t0035g0001 a0001c0001t0036g0002 a0001c0001t0048g0056 a0001c0001t0052g0134 a0001c0001t0053g0041 a0001c0001t0055g0106 a0001c0001t0056g0126 a0001c0001t0059g0155 a0001c0001t0060g0092 a0001c0001t0061g0091 a0001c0001t0077g0123 a0001c0003t0051g0054 a0001c0003t0057g0061	45	170	0.2647	46	c.236 others(65): Show c.236+20313_236+20314insCCCCGATATGGCGTTTCCCCGCATAA ACAACATAAGCTTCTGACTC	MAPK10	ENSG00000109339.24	transcript	ENST00000641462.2	protein_coding	4/13			chr4	TogoVar

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